Mapping the World of Rare Genetic Disorders
Explore a curated atlas of rare diseases with genomic insights, expert analyses, and patient-driven narratives designed for international researchers and families navigating rare conditions.
Global Disorders390+
Genome Records120K+
Research Partners45 Countries
Mission & Vision
RGeneLib bridges advanced genomics and compassionate care. Our mission is to deliver accurate, updated, and culturally sensitive information on rare diseases, empowering clinicians, researchers, and families worldwide.
Collaborative Data
Integrating genomic datasets, case reports, and clinical trials across continents.
Patient-Centric
Highlighting lived experiences, support communities, and advocacy pathways.
Strategic Pillars
- • Precision genomic annotations for rare disease variants
- • Multilingual knowledge translation for global equity
- • Real-time research alerts and funding opportunities
- • Secure collaboration workspace for cross-border teams
Featured Rare Disorders
Discover curated overviews of rare genetic conditions with phenotypic markers, diagnostic criteria, and therapeutic pipelines.
Pulmonology
Cystic Fibrosis
Mutation-specific therapy landscape, CFTR gene variants, and precision nutrition insights.
Read Full Insight →
Metabolics
Gaucher Disease
Enzyme replacement therapies, type-specific biomarkers, and ancestry-linked prevalence.
Explore Data Brief →
Neurology
Huntington Disease
Polyglutamine repeat profiling, emerging gene-silencing trials, and care models.
Open Clinical Dossier →
Patient Voices Spotlight
Meet Amara, living with spinal muscular atrophy in Nairobi. Her cross-border care team leveraged tele-genetics, remote physiotherapy, and family-led advocacy to shape an independent life.
Read Amara's Journey →Community Pulse
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Global Link Forums
Monthly multilingual sessions connecting caregivers, clinicians, and advocates.
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Rare Gene Mentors
Peer-to-peer pairing program offering emotional support and resource navigation.
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Scholarship Grants
Micro-grants for travel, assistive devices, and localized genetic counseling.
Research & Innovation Dispatch
Stay ahead with curated publications, funding calls, and translational breakthroughs across rare disease communities.
CRISPR Base Editing for CDKL5 Deficiency
Multi-national consortium reports promising neuronal rescue in preclinical models.
View Trial Snapshot →AI-Driven Diagnosis for Undiagnosed Syndromes
Computer vision and genomic analytics accelerate rare disease identification.
Read Research Brief →Novel Biomarkers for Lysosomal Storage Disorders
Proteomic signatures identified for early intervention pathways.
Inspect Data Story →Join Cross-Border Collaboratives
Contribute datasets, co-design clinical trials, and amplify advocacy efforts with an inclusive network of rare disease champions.
We prioritize ethical data stewardship and equitable knowledge sharing.